Linked Data
ClinVar Variation Id:
214
dbSNP Id:
rs757386104
ExAC:
19:33878370 GTCC / G
gnomAD v2:
19-33878370-GTCC-G
gnomAD v3:
19-33387464-GTCC-G
gnomAD v4:
19-33387464-GTCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33387470_33387472del , CM000681.2:g.33387470_33387472del | GRCh38 |
| NC_000019.9:g.33878376_33878378del , CM000681.1:g.33878376_33878378del | GRCh37 |
| NC_000019.8:g.38570216_38570218del | NCBI36 |
| NG_013358.1:g.139427_139429del | |
| NG_013358.2:g.139427_139429del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000588328.7:c.1425_1427del | ENSP00000468516.4:p.Glu475del | |
| ENST00000651901.2:c.1449_1451del | ENSP00000498922.2:p.Glu483del | |
| ENST00000698359.1:c.1314_1316del | ENSP00000513682.1:p.Glu438del | |
| ENST00000698360.1:c.1410_1412del | ENSP00000513683.1:p.Glu470del | |
| ENST00000698361.1:c.1475_1477del | ENSP00000513684.1:p.Arg492del | |
| ENST00000698362.1:c.*496_*498del | ENSP00000513685.1:n.*496_*498del | |
| ENST00000698426.1:c.1038_1040del | ENSP00000513713.1:p.Glu346del | |
| ENST00000698427.1:c.1401_1403del | ENSP00000513714.1:p.Glu467del | |
| ENST00000698428.1:c.1038_1040del | ENSP00000513715.1:p.Glu346del | |
| ENST00000698429.1:n.1242_1244del | ||
| ENST00000698430.1:c.1609_1611del | ||
| ENST00000698431.1:c.1096_1098del | ENSP00000513717.1:n.1096_1098del | |
| ENST00000698432.1:c.1168_1170del | ||
| ENST00000698433.1:n.821_823del | ||
| ENST00000244137.12:c.1359_1361del MANE Select | ENSP00000244137.5:p.Glu453del | |
| ENST00000588328.6:c.1414_1416del | ||
| ENST00000651901.1:c.1445_1447del | ||
| ENST00000244137.11:c.1359_1361del | ENSP00000244137.5:p.Glu453del | |
| ENST00000397032.8:c.1236_1238del | ENSP00000380226.3:p.Glu412del | |
| ENST00000436370.7:c.1167_1169del | ENSP00000391890.2:p.Glu389del | |
| ENST00000589598.5:n.84_86del | ||
| ENST00000591968.1:n.431_433del | ||
| ENST00000593085.1:n.1246_1248del | ||
| NM_000285.3:c.1359_1361del | NP_000276.2:p.Glu453del | |
| NM_001166056.1:c.1236_1238del | NP_001159528.1:p.Glu412del | |
| NM_001166057.1:c.1167_1169del | NP_001159529.1:p.Glu389del | |
| NM_000285.4:c.1359_1361del MANE Select | NP_000276.2:p.Glu453del | |
| NM_001166056.2:c.1236_1238del | NP_001159528.1:p.Glu412del | |
| NM_001166057.2:c.1167_1169del | NP_001159529.1:p.Glu389del |